 Ellis-Van Creveld Syndrome
"Ellis-Van Creveld Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
| Descriptor ID |
D004613
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| MeSH Number(s) |
C05.116.099.708.327 C16.131.077.350.398 C16.131.831.350.398 C16.320.850.250.398 C17.800.804.350.398 C17.800.827.250.398
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| Concept/Terms |
Ellis-Van Creveld Syndrome- Ellis-Van Creveld Syndrome
- Ellis Van Creveld Syndrome
- Syndrome, Ellis-Van Creveld
- Chondroectodermal Dysplasia
- Chondroectodermal Dysplasias
- Dysplasia, Chondroectodermal
- Dysplasias, Chondroectodermal
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Below are MeSH descriptors whose meaning is more general than "Ellis-Van Creveld Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Ellis-Van Creveld Syndrome".
This graph shows the total number of publications written about "Ellis-Van Creveld Syndrome" by people in this website by year, and whether "Ellis-Van Creveld Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ellis-Van Creveld Syndrome" by people in Profiles.
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Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA. Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. J Pediatr. 2017 Dec; 191:145-151.
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Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074.
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Ginns EI, Galdzicka M, Elston RC, Song YE, Paul SM, Egeland JA. Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder. Mol Psychiatry. 2015 Oct; 20(10):1212-8.
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O'Connor MJ, Rider NL, Thomas Collins R, Hanna BD, Holmes Morton D, Strauss KA. Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. Cardiol Young. 2011 Apr; 21(2):145-52.
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Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec; 77(4):291-5.
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